Dilated cardiomyopathy screening

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Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).

• FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
• Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.
• About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
• Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.